Test Detail

DNA panel for the British Shorthair and British Longhair that combines genetic blood group determination with screening for four hereditary diseases: autoimmune lymphoproliferative syndrome (ALPS), polycystic kidney disease (PKD), congenital hypothyroidism and hypertrophic cardiomyopathy associated with the ALMS1 gene. It is a multi-organ panel covering the immune, renal, endocrine and cardiac systems. It identifies carrier, affected and predisposed animals from a simple sample. It is very useful for planning matings in a breed with a broad population base.

PKD reached ultrasound prevalences close to 40% in the Persian before genetic screening, but in the British Shorthair the frequency is much lower. ALPS is very rare and has been documented in a small number of families. For the ALMS1 variant and congenital hypothyroidism, reliable population data in the breed remain limited.

- Neonatal isoerythrolysis due to blood group incompatibility\n- Generalised lymphadenomegaly, splenomegaly and autoimmune cytopenias with early mortality (ALPS)\n- Renal cysts progressing to chronic kidney failure: polyuria, polydipsia, weight loss, vomiting (PKD)\n- Dwarfism, lethargy, constipation and delayed dentition from the kitten stage (congenital hypothyroidism)\n- Heart murmur, arrhythmias, dyspnoea, syncope or sudden death (HCM-ALMS1)

Polycystic kidney disease was recognised in the Persian and related breeds decades ago; the PKD1 gene variant was identified in the mid-2000s and the British Shorthair, related to Persian lines, benefited from the same test. Autoimmune lymphoproliferative syndrome was described in British Shorthair families as an inherited immune dysregulation with early mortality; its association with a variant of the FASLG gene made a DNA test available. Hypertrophic cardiomyopathy is common in the breed and an ALMS1 variant (OMIA002316, classified as a variant of uncertain significance), initially studied in the Sphynx, has since been detected in other breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold); there is no specific published evidence in the British Shorthair. For congenital hypothyroidism, the molecular information available in the breed is still limited. Together these tests constitute the current preventive panel for the breed.

- Do not breed with PKD1-positive animals: as it is a dominant variant, one parent is enough to transmit it; withdraw carriers in a planned way\n- For the ALMS1 variant (uncertain significance): avoid mating carriers with each other and complement genetics with annual echocardiographic examinations\n- ALPS carriers can be mated with clear animals without problem; never two carriers with each other\n- In lines with a history of congenital hypothyroidism be cautious given the limited molecular knowledge: consult the laboratory before making decisions\n- Determine the blood group of breeding animals to prevent neonatal isoerythrolysis

In PKD, ultrasound remains useful, since the genetic test only detects the known PKD1 variant. In ALPS, the differential diagnosis with lymphoma and other causes of lymphadenomegaly requires cytology or histopathology; autoimmune cytopenias are common. HCM must be confirmed by echocardiography: the ALMS1 variant is of uncertain significance and must not be interpreted as a diagnosis. If congenital hypothyroidism is suspected, assess total T4, TSH and the presence of goitre.

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